Figure 1
From: From DNA to RNA to disease and back: The 'central dogma' of regulatory disease variation
Flow charts demonstrating the use of genome-wide gene expression studies in relation to disease studies. (A) Generating hypotheses for disease studies. Expression quantitative trait loci (eQTL) mapping studies identify variable regions of the genome with functional effects on gene expression. Single nucleotide polymorphisms within these functional regions can be candidates for involvement in disease. (B) Supporting disease association studies. Disease mapping studies often identify non-coding regions of the genome exhibiting significant association with disease. eQTL studies can provide a link to an associated gene by providing annotation of the function of that non-coding region.